Next-generation sequencing (NGS) can help elucidate, on a larger scale, the genetic factors that drive disease predisposition, drug sensitivity and resistance. NGS also enables sophisticated approaches for target and pathway identification and validation. Following the new emphasis for biomarkers, pharmaceutical companies are embracing genomics as a way to decrease drug failures in the clinic. Cambridge Healthtech Institute’s Inaugural Genomics in Pharma R&D conference will cover applications on the various stages of the drug discovery and development process from target identification and validation, to disease modeling, to patient selection in clinical development programs.

Monday, February 12

10:30 am Conference Program Registration Open

EXECUTIVE SUMMIT: GENETICS AND GENOMICS TO ADVANCE NOVEL DRUG DISCOVERY

11:50 Chairperson’s Opening Remarks

12:00 pm Please Select a Presentation from another Tri-Conference Program

12:30 Now Speaking in Preclinical and Translational Immuno-Oncology Program at 4:10 pm on Monday Feb 12 - The Use of Genetics in Early Sign of Efficacy Trials (view presentation)

Jean-Claude Marshall, MSc., PhD., Head of Clinical Genetics and Biospecimens, Pfizer

The recent rapid technological advancements in the field of genomics has made the ability to use genetic enrollment and on going analysis criteria possible during early phase clinical trials. These early sign of efficacy trials now form an important cornerstone of Pfizer clinical trial protocols. This presentation will focus on those on going efforts to accelerate early phase clinical trials within the Pfizer portfolio

1:00 Session Break

1:10 Enjoy Lunch on Your Own

2:10 Session Break

2:30 Chairperson’s Remarks

2:40 Please Select a Presentation from another Tri-Conference Program

3:10 Please Select a Presentation from another Tri-Conference Program 

3:40 Please Select a Presentation from another Tri-Conference Program 

4:10 Sponsored Presentation (Opportunity Available)

4:40 Refreshment Break and Transition to Plenary Session

5:00 Plenary Keynote Session (click here for more details)

6:00 Grand Opening Reception in the Exhibit Hall with Poster Viewing

7:30 Close of Day

Tuesday, February 13

7:30 am Registration Open and Morning Coffee

8:00 Plenary Keynote Session (click here for more details)

9:00 Refreshment Break in the Exhibit Hall with Poster Viewing

10:15 Please Select a Presentation from another Tri-Conference Program

10:45 Please Select a Presentation from another Tri-Conference Program

11:15 Now Speaking in PCR and NGS-Based Diagnostics Program at 3:40 pm on Tuesday Feb 13 - Using Genetics to Select Safer Targets and Drugs (view presentation)

Lucas D. Ward, Ph.D., Senior Scientist, Human Genetics and Functional Genomics, Comparative Biology and Safety Sciences, Amgen

Genetics is increasingly being used in two major ways: to discover new targets through variation in populations (studying diseases), and to stratify drug response clinically (studying patients; pharmacogenetics). Early-stage genetic validation often focuses more on efficacy than safety. I will discuss how genetics can be used, even pre-clinically, to improve safety: anticipating target-mediated adverse events, which we have demonstrated are statistically linked to target genetics; and constructing drug selectivity panels.

11:45 Sponsored Presentation (Opportunity Available)  

12:15 pm Session Break

12:25 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:25 Refreshment Break in the Exhibit Hall with Poster Viewing

NEOANTIGENS AND TUMOR MUTATION BURDEN

2:00 Chairperson’s Remarks

Terri McClanahan, Ph.D., Executive Director, Profiling & Expression, Translational Medicine, Merck Research Laboratories

2:10 Predictive Biomarkers of Response to Anti-PD1 Therapy

Terri McClanahan, Ph.D., Executive Director, Profiling & Expression, Translational Medicine, Merck Research Laboratories

Pan-cancer molecular biomarkers of immunotherapy response may be important for identifying patients likely to derive benefit from PD-1/PD-L1-directed monotherapy, while also proving useful for guiding the rational use of combination immunotherapy regimens. Data will be presented showing that somatic mutational load (ML) and a T-cell inflamed gene expression profile (GEP) are key determinants and independent predictors of response to pembrolizumab across multiple tumor types.

2:40 Natural Variation in Innate Immune Cell Parameters Is Driven by Genetic Factors

Matthew Albert, Ph.D., Principal Scientist, Cancer Immunology, Genentech

Enumeration and characterization of circulating immune cell populations provide key indicators of human health and disease. To identify environmental and genetic factors driving innate and adaptive immune cell parameters in homeostatic conditions, we combined semi-automated flow cytometric analysis of blood leukocytes and genome-wide DNA genotyping in 1,000 healthy, unrelated individuals of western European ancestry.

3:10 Neoantigen Scores to Guide Personalized Cancer Immunotherapy

Arnold B. Gelb, M.D., MS, FASCP, FCAP, Senior Director, Global Clinical Biomarkers and Companion Diagnostics, EMD Serono

Increasing the number of patients that respond successfully to cancer immunotherapies is the next big step in the fight against cancer. Recent studies have shown that the more tumor-specific mutations, or neoantigens, the cancer cells have, the greater the chance that the tumor will not be tolerated by the immune system.

 3:40 Circulating Rare Cell Biomarkers for Immuno-Oncology
Eric Kaldjian, CMO, RareCyte, Inc.

4:10 Valentine’s Day Celebration in the Exhibit Hall with Poster Viewing

5:00 Breakout Discussions in the Exhibit Hall

These interactive discussion groups are open to all attendees, speakers, sponsors, & exhibitors. Participants choose a specific breakout discussion group to join. Each group has a moderator to ensure focused discussions around key issues within the topic. This format allows participants to meet potential collaborators, share examples from their work, vet ideas with peers, and be part of a group problem-solving endeavor. The discussions provide an informal exchange of ideas and are not meant to be a corporate or specific product discussion.

Is Your IP Ready for the New AI-Driven Era in Genomics and Personalized Medicine?

Erica Pascal, Founder, Ingensity IP

Travis Wohlers, Assistant General Counsel, Luminex Corporation

Amy McCourt, Director, IP & Commercial Litigation, Legal, Illumina

• Can you protect your diagnostic assays and tools with patents and how do recent changes in the law impact this strategy?
• Does the use of big data and AI create new opportunities and challenges for protecting your technology?
• Balancing trade secret and patent protection to create a robust protection strategy in sync with your business goals

6:00 Close of Day

Wednesday, February 14

7:00 Breakfast Presentation (Sponsorship Opportunity Available)  

7:30 am Registration Open and Morning Coffee

8:00 Plenary Keynote Session (click here for more details)

10:00 Refreshment Break and Poster Competition Winner Announced in the Exhibit Hall

TARGET VALIDATION AND INDICATION EXPANSION

10:50 Chairperson’s Remarks

Ajay Shah, Director, Research Informatics, Office of the Chief Informatics Officer, Beckman Research Institute and City of Hope National Medical Center

11:00 Using Human Genetics to Drive Drug Discovery: The Industry Perspective

Anna Podgornaia, Ph.D., Associate Principal Scientist, Genetics and Pharmacogenomics, Translational Medicine, Merck

The Merck Genetics and Pharmacogenomics (GpGx) group uses human genetics and genomics across the entire drug development pipeline to make decisions anchored in human genetics. During the presentation, I will provide 3 vignettes about how we use human genetics during the drug discovery process, including 1) Using human genetics to get inspiration for novel drug programs; 2) Using human genetics to gain insight into potential safety issues; 3) Pharmacogenomics. I will close with a section on challenges and opportunities in using human genetics to drive drug discovery.

11:30 Immune-Mediated Dermatological Conditions: Target Identification

Deepak K. Rajpal, Senior Scientific Director, Computational Biology, Target Sciences, GSK

We share a framework for developing new therapeutic intervention strategies for such indications by utilizing publicly available clinical transcriptomics data sets. We propose a strategy based on developing disease signatures, and utilization of the disease signatures conceptually for identifying potential drug repurposing opportunities and present novel target identification approaches. We anticipate that the conceptual methodology shared here or similar approaches will further support not only biomarker discovery efforts but also the development of new drugs.

12:00 pm bStyle: A Graphical, Integrated and Modular Systems Biology Platform

Corrado Priami, Ph.D., President & CEO, COSBI

bStyle is a graphical platform to run systems biology analysis in the field of systems pharmacology. It handles multi-omics data to detect active networks and end-up performing in silico experiments for drug design and development. All the mathematical technicalities are hidden behind the graphics and it is then easy to use even by a non-expert of modeling and data analysis.

12:30 Session Break

12:40 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:10 Refreshment Break in the Exhibit Hall and Last Chance for Poster Viewing

ASSAY TECHNOLOGY AND BIOREPOSITORIES FOR GENOMIC BIOMARKERS DEVELOPMENT

1:50 Chairperson’s Remarks

Kai Wang, Ph.D., Principal Scientist, Institute for Systems Biology

2:00 Tissue Histopathology Investigations in Support of Clinical Trials for Novel Therapeutics: Considerations and Perspectives

Keith Wharton, M.D., Ph.D., Senior Medical Director, Leica Biosystems

Tissue histopathology investigations are central to discovery and preclinical development of novel therapeutics and for routine medical care, but their variable use in clinical trials represents a missed opportunity to improve our understanding of disease and the effects of various therapies on disease. I present major considerations and propose a question-based framework for implementation of tissue histopathology biomarker investigations in clinical trials, including several examples

2:30 Development and Clinical Validation of Large-Scale NGS Oncology Panels for Detection of SNVs, Indels, Fusion Genes and CNVs

Jeremy Segal, M.D., Ph.D., Director, Genomic and Molecular Pathology, Pathology, University of Chicago

More than ever, oncology genomics laboratories are under pressure to deliver more results at less cost and in less time using smaller and smaller specimens. Careful laboratory planning and a high level of technical proficiency are necessary to successfully navigate this environment, with a strong emphasis on creating individual assays that can deliver comprehensive genetic information about specimens, including SNVs, indels, fusion genes, CNVs and more. This session will provide strategies, examples and lessons learned during the process of creating and validating a large-scale hybrid capture cancer profiling assay at University of Chicago.

3:00 Turning Lead to Gold: Validating the Detection of Fusion Transcripts against an Imperfect Standard

Jason N. Rosenbaum, M.D., Assistant Professor, Pathology and Laboratory Medicine, University of Pennsylvania

Many therapeutic targets for cancer are fusion transcripts not easily multiplexed in traditional assays, such as fluorescent in situ hybridization (FISH). RNA-based next-generation sequencing (NGS) offers multiplexed detection and more detailed genomic information, offering significant advantages over FISH. Moreover, despite operating as a de facto “gold-standard,” FISH has a significant false-positive rate. We present our experience validating a clinical RNA-NGS assay against imperfect “gold-standards.”

3:30 Session Break

TRANSLATIONAL INFORMATICS: CLINICAL DATA DRIVING PRECLINICAL RESEARCH (CONT.)

3:40 Chairperson’s Remarks

Lara Mangravite, Ph.D., President, Sage Bionetworks

3:45 Collaborative Ecosystems in Data-Intensive Science for Precision Medicine

Lara Mangravite, Ph.D., President, Sage Bionetworks

An advanced understanding of the dynamic nature of disease is necessary to meaningfully implement precision medicine but several barriers exist. In particular, approaches to understand dynamic fluctuations in disease are highly data intense and require bioinformatic inquiry for which standard methodologies do not exist. These issues can be systematically addressed by combining resources, benchmarking methods, and establishing community consensus around well-supported research findings.

4:15 Novel Approaches to Participant Engagement in Genetic Research and Translating Big Data into Action

David Verbel, MPH, Director, Translational Data Science, Human Biology and Data Science, Eisai, Inc.

To identify the right medicines and patients to receive them, Eisai is exploring ways to identify individuals who carry genetic variants of interest. In two such studies, biological samples from genetically and clinically selected individuals will be characterized to learn more about cellular and molecular consequences to changes in the function of particular genes. The first involves utilizing a novel research platform; the latter working with a leading academic center.

4:45 Scientific Informatics for Translational Oncology

Ronghua Chen, Director, Scientific Informatics, Global Research IT, R&D IT, Merck

The applications of molecular profiling technologies including next-generation sequencing in translational oncology offer unprecedented opportunities to discover new drug targets and biomarkers as well as to understand tumor biology. This presentation will elaborate the complexities of oncology data sets and highlight an integrated scientific informatics approach in analyzing data and supporting translational research.

5:15 Close of Conference Program